Disease Browser
Parent Node: Ataxia (D001259) Parent Node: Deaf-Blind Disorders (D054062) Parent Node: Genetic Diseases, X-Linked (D040181) ..Starting node .. Arts syndrome (C535388) Child Nodes:
Sister Nodes: ..Aarskog Syndrome (C535331) 1 ..Abruzzo Erickson syndrome (C535559) ..Achromatopsia incomplete, X-linked (C538165) ..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568) ..Agammaglobulinemia, X-linked, type 2 (C538057) ..Aicardi Syndrome (D058540) 1 ..Aland Island Eye Disease (C562664) ..Alpha-Thalassemia Myelodysplasia Syndrome (C563023) ..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570) ..Alzheimer Disease 16 (C567463) ..Androgen-Insensitivity Syndrome (D013734) 2 ..Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533) ..Anemia, sideroblastic spinocerebellar ataxia (C536358) ..Anemia, X-Linked, without Thrombocytopenia (C564429) ..Anencephaly and spina bifida X-linked (C536359) ..Aneurysm, Intracranial Berry, 5 (C563670) ..Angioma serpiginosum, X-linked (C536366) ..Arthrogryposis multiplex congenita, distal, X-linked (C535380) ..Arthrogryposis, X-Linked, Type V (C564574) ..Arts syndrome (C535388) ..Atypical Mycobacteriosis, Familial, X-Linked 1 (C567070) ..Atypical Mycobacteriosis, Familial, X-Linked 2 (C567068) ..Barth Syndrome (D056889) 2 ..Bornholm Eye Disease (C564092) ..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519) ..Branchial arch syndrome X-linked (C537102) ..Brunner Syndrome (C563156) ..Bruton type agammaglobulinemia (C537409) ..Bulbo-Spinal Atrophy, X-Linked (D055534) 1 ..Bullous Dystrophy, Hereditary Macular Type (C563065) ..Cantu syndrome (C535572) ..Cardiac valvular dysplasia, X-linked (C535576) ..Cardiomyopathy, Dilated, 3A (C564721) ..Cataract, congenital, with microcornea or slight microphthalmia (C535338) ..Chondrodysplasia punctata 2, X-linked dominant (C538416) ..Chondrodysplasia punctata, brachytelephalangic (C535941) ..Choroideremia (D015794) 2 ..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585) ..Chromosome Xq28 Duplication Syndrome (C567580) ..Cleft Palate with Ankyloglossia (C564442) ..Cleft palate X-linked (C536426) ..Cone Dystrophy, X-Linked, 1 (C564439) ..Cone dystrophy, x-linked, with tapetal-like sheen (C535975) ..Cone-Rod Dystrophy, X-Linked, 2 (C564717) ..Cone-Rod Dystrophy, X-Linked, 3 (C564507) ..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438) ..Congenital alopecia X-linked (C535981) ..Congenital Heart Defects, X-Linked (C567444) ..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515) ..Congenital idiopathic intestinal pseudoobstruction (C535532) ..Corpus Callosum, Partial Agenesis of, X-Linked (C564115) ..Craniofacioskeletal Syndrome (C567471) ..Deafness, High-Frequency Sensorineural, X-Linked (C564432) ..Deafness, X-Linked 1 (C564433) ..Deafness, X-Linked 3 (C564727) ..Deafness, X-Linked 4 (C564723) ..Deafness, X-Linked 5 (C564472) ..Dent Disease (D057973) 1 ..Dent disease 1 (C538212) ..Dent Disease 2 (C564487) ..Dyggve-Melchior-Clausen syndrome (C535726) ..Dyserythropoietic Anemia with Thrombocytopenia (C564525) ..Dyskeratosis Congenita (D019871) 3 ..Dystonia 3, Torsion, X-Linked (C564048) ..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1 ..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538) ..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181) ..Ehlers-Danlos syndrome type 5 (C536197) ..Epidermodysplasia Verruciformis, X-Linked (C564430) ..Epilepsy, Female-Restricted, with Mental Retardation (C564715) ..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505) ..Episodic Muscle Weakness, X-Linked (C564565) ..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428) ..Fabry Disease (D000795) 2 ..Fetal akinesia syndrome, X-linked (C537921) ..Fg Syndrome 5 (C564480) ..Focal Dermal Hypoplasia (D005489) 1 ..Glycogen Storage Disease Type IIb (D052120) ..Glycogen Storage Disease Type VIII (D006015) ..Glycogen Storage Disease, Type IXA2 (C567579) ..Glycogen Storage Disease, Type IXD (C564485) ..Granulomatous Disease, Chronic (D006105) 7 ..Hemophilia B (D002836) ..Heterotaxy, visceral, X-linked (C538116) ..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725) ..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492) ..Hodgkin disease, X-linked pseudoautosomal (C538326) ..Hydrocephalus With Cerebellar Agenesis (C564407) ..Hydrocephalus, X-linked (C536078) ..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408) ..Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1 ..Hyperekplexia and Epilepsy (C564474) ..Hypertrichosis congenital generalized X-linked (C538388) ..Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149) ..Hypogammaglobulinemia, X-Linked (C562478) ..Hypoparathyroidism, X-Linked (C562782) ..Hypospadias 1, X-Linked (C567482) ..Hypospadias 2, X-Linked (C567462) ..Ichthyosis, X-Linked (D016114) 2 ..Ichthyosis, X-Linked, Complicated (C567443) ..Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192) ..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120) ..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780) ..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5 ..Joubert Syndrome 10 (C567582) ..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159) ..Leigh Syndrome, X-Linked (C564114) ..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065) ..Liver Glycogenosis, X-Linked, Type II (C564421) ..Lymphoproliferative Syndrome, X-Linked, 2 (C564469) ..Macrothrombocytopenia, X-Linked (C564526) ..Macular Dystrophy, X-Linked (C564110) ..Major Affective Disorder 2 (C564108) ..Martin-Probst Deafness-Mental Retardation Syndrome (C564495) ..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029) ..Megalocornea (C562829) ..Membranoproliferative Glomerulonephritis, X-Linked (C564423) ..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101) ..Mental Retardation, X-Linked (D038901) 134 ..Mental Retardation, X-Linked, Syndromic 12 (C564106) ..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484) ..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476) ..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586) ..Mental Retardation, X-Linked, With Panhypopituitarism (C567485) ..Mental Retardation, X-Linked, Znf711-Related (C567583) ..Microcephaly microcornea syndrome Seemanova type (C537539) ..Microphthalmia, Isolated, with Coloboma 1 (C564531) ..Microphthalmia, syndromic 7 (C537466) ..Midline Defects, X-Linked (C564054) ..Mitral valve prolapse, familial, X-linked (C537478) ..Modifier, X-Linked, for Neurofunctional Defects (C564098) ..Multiple Pterygium Syndrome, X-Linked (C564072) ..Muscular Dystrophy, Duchenne (D020388) 1 ..Muscular Dystrophy, Emery-Dreifuss (D020389) 10 ..Muscular Dystrophy, Progressive Pectorodorsal (C564095) ..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468) ..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469) ..Myopathy, X-Linked, with Excessive Autophagy (C564093) ..Myopia 1 (C564091) ..Myopia 13 (C564473) ..Nance-Horan syndrome (C538336) ..Nasodigitoacoustic syndrome (C538337) ..NEMO mutation with immunodeficiency (C538399) ..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491) ..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901) ..Neural tube defects X-linked (C536410) ..Neuropathy, Hereditary Sensory, X-Linked (C564090) ..Neutropenia, Severe Congenital, X-Linked (C564539) ..Night blindness, congenital stationary (C536122) 4 ..Nystagmus 5, Infantile Periodic Alternating (C564478) ..Oculocerebrorenal Syndrome (D009800) 1 ..Ophthalmoplegia, External, and Myopia (C564087) ..Opitz GBBB Syndrome, X-Linked (C567932) ..Optic atrophy, X-linked (C537125) ..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1 ..Ovarian Dysgenesis 2 (C564499) ..Panhypopituitarism X-linked (C538613) ..Parathyroid Glands, Agenesis Of (C563238) ..Parkinson Disease 12 (C564486) ..Parkinsonism, early onset with mental retardation (C537179) ..Pelizaeus-Merzbacher Disease (D020371) 1 ..Phosphoglycerate Kinase 1 Deficiency (C567067) ..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461) ..Premature Ovarian Failure 2a (C564498) ..Progressive hearing loss stapes fixation (C536424) ..Properdin Deficiency, Type II (C564075) ..Properdin Deficiency, Type III (C564076) ..Properdin deficiency, X-linked (C537241) ..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147) ..Prostate Cancer, Hereditary, X-Linked 2 (C567477) ..Protoporphyria, Erythropoietic, X-Linked Dominant (C567464) ..Proud Syndrome (C563110) ..Ptosis, Hereditary Congenital 2 (C564553) ..Radial Ray Deficiency, X-Linked (C564523) ..Radiation Sensitivity of Natural Killer Activity (C564066) ..Radius absent anogenital anomalies (C535281) ..Reticuloendotheliosis, X-linked (C538362) ..Retinitis Pigmentosa 3 (C564520) ..Retinitis Pigmentosa 34 (C564475) ..Retinitis Pigmentosa 6 (C564065) ..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595) ..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467) ..Russell-Silver Syndrome, X-Linked (C562446) ..Short Stature, Idiopathic, X-Linked (C564479) ..Simpson-Golabi-Behmel syndrome (C537340) ..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567) ..Sketetal dysplasia coarse facies mental retardation (C536671) ..Spastic paraplegia 16, X-linked (C536643) ..Spastic paraplegia 2, X-linked (C536857) ..Spastic Paraplegia 34, X-Linked (C567465) ..Spina Bifida, X-Linked (C564459) ..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506) ..Spinocerebellar Ataxia, X-Linked 1 (C563134) ..Spinocerebellar Ataxia, X-Linked 5 (C567478) ..Spinocerebellar ataxia, X-linked, 3 (C537315) ..Split-Hand Foot Malformation 2 (C564056) 1 ..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714) ..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447) ..Spondylometaphyseal Dysplasia, X-Linked (C563124) ..Surfactant Metabolism Dysfunction, Pulmonary, 4 (C567461) ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244) ..Terminal Osseous Dysplasia and Pigmentary Defects (C564554) ..Testicular Germ Cell Tumor 1 (C564559) ..Thrombocytopenia 1 (C564052) ..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050) ..Thrombocytopenia, X-Linked, Intermittent (C564053) ..Thrombocytosis, Familial X-Linked (C564532) ..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581) ..Thyroxine-Binding Globulin Deficiency (C564049) ..Tooth Agenesis, Selective, X-Linked, 1 (C567060) ..Torticollis keloids cryptorchidism renal dysplasia (C536970) ..VACTERL Association With Hydrocephalus (C564751) ..VACTERL association with hydrocephaly, X-linked (C536520) ..Vasquez Hurst Sotos syndrome (C536533) ..Vesicoureteral Reflux, X-Linked (C564042) ..Von Willebrand Disease, X-Linked Form (C564041) ..Wells Jankovic syndrome (C536692) ..Wieacker syndrome (C536703) ..Wiskott-Aldrich Syndrome (D014923) 1 ..X Inactivation, Familial Skewed, 1 (C564716) ..X Inactivation, Familial Skewed, 2 (C564572) ..X-linked adrenal hypoplasia congenita (C536757) ..X-Linked Chondrodysplasia Punctata 1 (C580533) ..X-Linked Combined Immunodeficiency Diseases (D053632) 1 ..X-Linked Infantile Nystagmus (C580539) ..X-linked sideroblastic anemia (C536761) ..X-linked tetra-amelia (C536497) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 928
Name: Arts syndrome
Definition:
Alternative IDs: OMIM:301835
ParentIDs: MESH:D001259|MESH:D040181|MESH:D054062
TreeNumbers: C09.218.458.341.186.500/C535388 |C10.597.350.090/C535388 |C10.597.751.418.341.186.500/C535388 |C10.597.751.941.162.625/C535388 |C11.966.075.375/C535388 |C16.131.077.299/C535388 |C16.320.322/C535388 |C23.888.592.350.090/C535388 |C23.888.592.763.393.341.186.500/C5
Synonyms: ARTS |Ataxia-Deafness-Optic Atrophy, Lethal |Ataxia, Fatal X-Linked, with Deafness and Loss of Vision |MENTAL RETARDATION, X-LINKED, SYNDROMIC 18 |MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE |MRXS18 |MRXSARTS |X-linked fatal ataxia with deafness and loss
Slim Mappings: Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference:
MedGen: C535388
MeSH: C535388
OMIM: 301835 ; Genes: PRPS1 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_002764.3(PRPS1):c.336T>C (p.Val112=) 5631 PRPS1 Benign 80338674 RCV000020486 ; N MedGen:C0796028,OMIM:301835,ORPHA:1187 X 106884161 106884161 NM_002764.3:c.336T>C NP_002755.1:p.Val112= NC_000023.10:g.106884161T>C - C0796028 301835 Arts syndrome NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) 5631 PRPS1 Pathogenic 80338675 RCV000010615 ; N MedGen:C0796028,OMIM:301835,ORPHA:1187 X 106884223 106884223 NM_002764.3:c.398A>C NP_002755.1:p.Gln133Pro NC_000023.10:g.106884223A>C OMIM Allelic Variant:311850.0012 C0796028 301835 Arts syndrome NM_002764.3(PRPS1):c.424G>C (p.Val142Leu) 5631 PRPS1 Pathogenic 398122855 RCV000022882 ; N MedGen:C0796028,OMIM:301835,ORPHA:1187 X 106885614 106885614 NM_002764.3:c.424G>C NP_002755.1:p.Val142Leu NC_000023.10:g.106885614G>C OMIM Allelic Variant:311850.0017 C0796028 301835 Arts syndrome NM_002764.3(PRPS1):c.447G>A (p.Pro149=) 5631 PRPS1 Benign 80338730 RCV000020488 ; N MedGen:C0796028,OMIM:301835,ORPHA:1187 X 106885637 106885637 NM_002764.3:c.447G>A NP_002755.1:p.Pro149= NC_000023.10:g.106885637G>A - C0796028 301835 Arts syndrome NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) 5631 PRPS1 Pathogenic;Uncertain significance 80338676 RCV000010614 ; RCV000178182 ; N MedGen:C0796028,OMIM:301835,ORPHA:1187; MedGen:CN221809 X 106885645 106885645 NM_002764.3:c.455T>C NP_002755.1:p.Leu152Pro NC_000023.10:g.106885645T>C OMIM Allelic Variant:311850.0011 C0796028 301835 Arts syndrome; CN221809 not provided NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) 5631 PRPS1 Pathogenic 869025593 RCV000208743 ; RCV000208721 ; N MedGen:C0796028,OMIM:301835,ORPHA:1187; MedGen:C1844677,OMIM:304500,OMIM:304590 X 106890961 106890961 NM_002764.3:c.830A>C NP_002755.1:p.Gln277Pro OMIM Allelic Variant:311850.0019 C0796028 301835 Arts syndrome; C1844677 304590 Deafness, high-frequency sensorineural, X-linked; C1844677 304500 Deafness, high-frequency sensorineural, X-linked